In His Honor

NPC

So what’s with the super rare disease that Jax has been diagnosed with? If you don’t want to read much more than these first two sentences: its rare, approx 500 people have been diagnosed with Type C, no cure exists except medications to slow the progression of symptoms, and symptoms present with liver issues, lung problems, loss of muscle tone, vision changes, and neurological regression. 

The site with the best information for those non-medical folks is the National Niemann-Pick Disease Foundation site. 

This is copied straight from the site, but please visit and take a look for yourself.
 “Niemann-Pick Disease Type C (NPC) is very different than Type A or B (ASMD).  NPC Patients are not able to metabolize cholesterol and other lipids properly within the cell. Consequently, excessive amounts of cholesterol accumulate within the liver and spleen and excessive amounts of other lipids accumulate in the brain. NPC causes a secondary reduction of ASM activity, which led all three types to be considered forms of the same disease. There is considerable variation in when Type C symptoms first appear and in the progression of the disease. Symptoms may appear as early as a few months of age or as late as adulthood. Vertical gaze palsy (the inability to move the eyes up and down), enlarged liver, enlarged spleen, or jaundice in young children are strong indications that NPC should be considered. It is common for only one or two symptoms to appear in the early stages of the disease. In most cases, neurological symptoms begin appearing between the ages of 4 and 10.  Generally, the later neurological symptoms begin, the slower the progression of the disease.
Type C Niemann-Pick Disease has an estimated 500 cases diagnosed worldwide.  It is believed, however, that the number of people affected by NPC is higher, but diagnostic difficulties do not allow an accurate assessment of the occurrence rate.  NPC has been initially diagnosed as a learning disability, mild retardation, “clumsiness,” and delayed development of fine motor skills. It is not uncommon for a family to spend several years seeking a diagnosis before NPC is identified. NPC is always fatal. The majority of children with NPC die before age 20 (many die before the age of 10). Late onset of symptoms can lead to longer life spans but it is extremely rare for any person with NPC to reach age 40.”

Jaxtyn presented with fluid around his belly (ascites) while in utero. He was closely monitored for two weeks and the fluid started to go away on its own. At birth the substantial amount of fluid that surrounded his belly was remarkably gone, and would have never been noticed without prior reason to check for it. He currently shows a few symptoms that are related to NPC. His liver is enlarged and he does have a little bit of jaundice. His bilirubin levels have been high since birth, and gets blood drawn frequently to monitor the trend. Without going over everyone’s head, bilirubin (you know, that orange-y/yellow color babies and adults turn) is the product of the breakdown of red blood cells within your body, the liver excretes this. Elevated levels indicate liver problems. Jaxtyn is currently being monitored by many many specialists: general pediatrician, developmental specialist including PT and OT, nutritionist, gastroenterologist who specializes in liver disease, a geneticist, cardiologist, and soon to be referred to a pulmonologist and neurologist. Most of these Dr’s have been asked if they have ever seen a child with NPC and many truthfully answer with “No”. Having all of these professionals on Jaxtyn’s case will not prevent symptoms from arising, but they can treat those symptoms and educate themselves on this disease for future studies and patients who may be affected. Jaxtyn has already been written up in a medical journal since NPC was confirmed while he was still in utero and it is never diagnosed that early. Ultrasound videos and pictures will be used to help other physicians in the study of this disease and the progression of research. 

We remain positive throughout this process, it is literally new to EVERYONE involved in his care and we don’t know what to expect or when. God created this tiny human for a reason and we can already see how big of an impact he will make in this world. 

In His Honor, 

Momma and Jax

I am definitely not an “ experienced writer”, grammatical expert or profound/humorous/entertaining blogger, but in hopes to document these next years and share them, here goes nothing!

Here goes, well A LOT.

As I start this blog I do so with the full intent to keep so many friends and family updated with the latest in the world of Jaxtyn! We all know he’s the main attraction here lately. First, let’s catch everyone up. 

Many, okay most, of y’all were shocked and surprised with Jaxtyn’s arrival since I so cleverly hid the pregnancy. Questions (and rumors) have arised concerning why he was kept such a secret… well let’s set records straight.

VERY shortly after finding out about this pregnancy my marriage was rocked with the emerging truth that infidelity crept into mine and my husband’s relationship. For those who have experienced such heartache, you feel me. For those of you who have never felt such crushing pain, abandonment and distrust, it is an unfortunate circumstance no it is more than an unfortunate circumstance, it is one of the purest forms of deep deep pain that you can feel that isn’t physiological. I fought hard for my marriage and gave months of hard work and repeated forgiveness for it to soon be ending with the dreaded big “D”. Without God in me and the Holy Spirit working through me I would have never been able to grant as much grace as I have to Jaxtyn’s father, but we continue to co-parent the best we can. He is so much in love with his BOY and I ask for prayers that Jaxtyn and his daddy have a close relationship and bond like fathers and sons should.

I thought life was hard then…
around 24 weeks (and having a healthy and ‘perfect’ pregnancy) it was found on ultrasound that baby boy had a substantial amount of fluid around his belly. Dr.’s were scared and told us to prepare for the worst as they explained what this could mean for the expectancy of the baby. Tests were quickly ordered and run, while injections of medication were given to prepare my 24-week-old fetus for early delivery. When tests came back negative and all possible reasons were ruled out we delved deeper into genetics. Dad and I had blood tests done to check genetic diseases that we could potentially be carriers for, and there we ended up finding our answer. I will never forget the exact moment I heard the preliminary results of the genetic test. Standing in Ross trying on dresses for Jaxtyn’s baby shower, the genetic counselor called and told me that the only test that came back positive for both Dad and I was a SUPER rare disease called Niemann-Pick Disease. I stood in the dressing room with my mom as I cried knowing what the outcome of this disease would mean. I’m sure the geneticist quickly ran through the basics of this finding with me over the phone, but all that my mind could process at that moment was the fact that this disease is fatal and has no cure. When the call was ended I explained to my mom through sobbing tears that I knew about this disease. I previously researched it after an Instagram account I began following at the beginning of my pregnancy of a sweet woman- a fashion blogger who was currently pregnant but had a son who died of this rare genetic disease called, Niemann-Pick. I quickly pulled up the account for my mom to scroll through while I finished dressing and she softly asked me if I knew what the name of this ladies son was that passed. His name was Jaxon, Jax for short. We cried tears over a picture posted of him in his Tom Brady Patriots jersey. The similarities and common interests were hard to overlook as I pictured MY Jax. 

The following months involved many maternal fetal specialist appointments to monitor Jaxtyn and his growth, an amniocentesis that ended up confirming Jaxtyn is affected by this genetic disease, and prayer after prayer lifted up for this sweet baby to continue to grow. [I will create a post about Niemann-Pick in layman’s terms for those who wish to know what exactly Jaxtyn has been diagnosed with; it is a fatal disease with no cure.] We cherish this time with him, love on him, pray for our Healer to lay His hands upon Jaxtyn, but are prepared for the time God calls Jaxtyn up to heaven. As of today, he is as healthy as can be expected and is such a happy boy. I am so incredibly blessed to be this boy’s momma and I thank God every single day for him. Throughout this year of 2018 I have certainly been broken hearted, but through every single valley God has been present and known. Words cannot express how grateful I am for my family and for the village that support me and Jaxtyn. With God all things are possible, and He is always our good good Father. The Bible verse that has followed me through this pregnancy, Isaiah 66:9 carries new meanings with each mountain I have come upon, but God has shown in a few ways what can be “born”. 

This first post does not define us or categorize us in any way. We hope to be seen as the Momma and baby you’ve eagerly been following thus far. We appreciate all prayers lifted for us, invites to coffee dates, and hugs that last awkwardly too long. 

With love and in His honor, 

Momma and Jax

“’I will not cause pain without allowing something new to be born,’ says the Lord.”  Isaiah 66:9

Thanks for following along with Jax and his momma!